Canonical Allele Identifier: CA82741737
Gene: ILDR1 HGNC NCBI
dbSNP:
2715267
gnomAD v2:
3:121770858 G / A
gnomAD v3:
3:122052011 G / A
gnomAD v4:
chr3-122052011-G-A
Joint Max Group AF 0.00001934 (AFR)
Genomes Max Group AF 0.00001934 (AFR)
MyVariant.info:
GRCh38 chr3:g.122052011G>A
GRCh37 chr3:g.121770858G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122052011G>A , CM000665.2:g.122052011G>A GRCh38
NC_000003.11:g.121770858G>A , CM000665.1:g.121770858G>A GRCh37
NC_000003.10:g.123253548G>A NCBI36
NG_029928.1:g.1650G>A
NG_031870.2:g.13544C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011512739.1:c.-348+8409C>T XP_011511041.1:n.-348+8409C>T
XM_011512739.2:c.-348+8409C>T XP_011511041.1:n.-348+8409C>T
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